Detalhe da pesquisa
1.
De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence.
Hum Mol Genet
; 31(22): 3846-3854, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35717577
2.
De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.
Hum Mol Genet
; 31(24): 4173-4182, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861646
3.
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.
Am J Med Genet A
; : e63614, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562108
4.
Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
Am J Med Genet A
; 194(7): e63575, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38407561
5.
SALL4 deletion and kidney and cardiac defects associated with VACTERL association.
Pediatr Nephrol
; 39(8): 2347-2349, 2024 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-38329589
6.
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing.
BMC Genomics
; 24(1): 601, 2023 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37817060
7.
Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report.
BMC Neurol
; 23(1): 211, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37264311
8.
Café-au-lait Spots and Cleft Palate: Not a Chance Association.
Cleft Palate Craniofac J
; : 10556656231188205, 2023 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37448313
9.
Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross-sectional study.
Cancer Sci
; 113(5): 1821-1829, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238112
10.
Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.
J Pediatr
; 244: 38-48.e1, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35131284
11.
Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect.
Am J Med Genet A
; 188(8): 2472-2478, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567499
12.
A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders.
Am J Med Genet A
; 188(2): 613-617, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622574
13.
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
Am J Med Genet A
; 188(4): 1184-1192, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35018717
14.
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.
BMC Neurol
; 22(1): 20, 2022 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35012485
15.
Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis.
Childs Nerv Syst
; 38(3): 659-663, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34121137
16.
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.
Am J Med Genet A
; 185(4): 1182-1186, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381903
17.
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
Am J Med Genet A
; 185(6): 1836-1840, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33650182
18.
Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder.
Am J Med Genet A
; 185(5): 1544-1549, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619830
19.
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
Am J Med Genet A
; 185(7): 2084-2093, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33973697
20.
Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis.
J Pediatr
; 221: 251-254, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303357